<p><b>OBJECTIVE</b>To investigate the
genotype distribution of
hemoglobinopathy in
Chinese Jiangsu
population.</p><p><b>
METHOD</b>A total of 4115 samples were screened for hemaglobinopathy by using MCV combined with
erythrocyte fragility tests and
HPLC.
Thalassemia genotypes were identified by Gap-
PCR and Recerse Dot blot.
PCR-
DNA sequencing and
PCR-elecrophoresis were used as supplement of
PCR-RBD and for identifying the mutants of
globin gene of abnormal
hemoglobin.</p><p><b>RESULTS</b>The positive
screening rate was 6.10% (251/4115) in
Chinese Jiangsu
population, 232 cases received
thalassemia genotype diagnosis and from them 195 people were positive. In all positive ones, α-
thalassemia, β-
thalassemia, α-
thalassemia combined with β-
thalassemia,
SEA-HPFH and
SEA-HPFH combined with β-
thalassemia were found respectively to be 31.28% (61/232), 66.15% (129/232), 1.54% (3/232), 0.43% (1/232) and 0.43% (1/232) of
patients. The majority
genotype of α-
thalassemia was - - (
SEA) and IVS-II-654 was the main
genotype of β-
thalassemia, 11 cases of abnormal
hemoglobin were found, including 3 cases of Hb E, 1 Hb Kenitra, 1 Hb Seattle, 1 Hb Saitama, 1 Hb Bushwick, 1 Hb Koln and 1 Hb M-Milwaukee-2.</p><p><b>CONCLUSION</b>The main hemoglobinpathy is
thalassemia in
Chinese Jiangsu province and the
HPLC play an important
role in
screening hemoglobinpathy. There is
reference value of this study for
genetic counseling and
prenatal diagnosis.</p>